NovelSeq: Novel Sequence Insertion Detection
The NovelSeq framework is designed to detect novel sequence insertions using high throughput paired-end whole genome sequencing data. http://novelseq.sourceforge.net/Home Paper at https://www.ncbi.nlm.nih.gov/pubmed/203857262535 days ago
2371 days ago
Reference-free prediction of rearrangement breakpoint reads
...fusion transcripts correctly than previous approaches, and yet produces fewer false-positive reads. To our knowledge, this is the first method to detect breakpoint reads without usin...2263 days ago
NGMLR: long-read mapper designed to align PacBio or Oxford Nanopore
...s it especially effective at more precisely identifying the position of breakpoints stemming from structural variations. The k-mer search helps to detect and split reads that cannot b...2215 days ago
2146 days ago
ReMILO: reference assisted misassembly detection algorithm using short and long reads.
ReMILO, a reference assisted misassembly detection algorithm that uses both short r...d red-black multipositional de Bruijn graph to detect misassemblies. In addition, R...find their differences from the long reads to detect more misassemblies....2143 days ago
Nanopolis: polish a genome assembly
...for signal-level analysis of Oxford Nanopore sequencing data. Nanopolish can calculate an improved consensus sequence for a draft genome assembly, detect base modifications, call SNPs...2123 days ago
Platypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data
Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing...ly it achieves both high sensitivity and high specificity. Platypus can detect SNPs, MNPs, short indels, rep...2032 days ago
1957 days ago
MEC: Contig Misassembly Correction
MEC, to identify and correct misassemblies in contigs. Firstly, MEC takes fragment coverage as the feature to detect the candidate misassemblies. Then, it can distinguish a large numb...1564 days ago